Przemysław Sikora

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

Karl P. Schlingmann, Justyna Ruminska, Martin Kaufmann et al. · Journal of the American Society of Nephrology · 2015 · 282 citations · Full text

Medicine, Endocrinology, Genetics +17

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Miguel Verbitsky, Rik Westland, Alejandra Perez et al. · Nature Genetics · 2018 · 239 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy

Krzysztof Kiryluk, Elena Sánchez, Francesca Zanoni et al. · Nature Genetics · 2023 · 172 citations · Full text

Life Sciences, Bioinformatics, Nephrology +17

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Esther López-Rivera, Yangfan P. Liu, Miguel Verbitsky et al. · New England Journal of Medicine · 2017 · 154 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

Kathrin Burgmaier, Leonie Violetta Brinker, Florian Erger et al. · Kidney International · 2021 · 87 citations · Full text

Medicine, Genetics, Molecular Genetics +16